Melbourne: Australian researchers are close to solve mysteries of human sexual development, following an international collaboration on genetic studies that show male mice can be created without the Y chromosome.
Adelaide University researcher Paul Thomas who was quoted by AAP report said the study has found that a male mouse can now be created without a Y chromosome by activating a single gene, called SOX3, in the developing foetus.
Males usually have one Y chromosome and one X chromosome,while females have two X chromosomes.
A gene on the Y, called SRY, triggers testes development in the early embryo, and once these begin to form, the rest of the embryo also becomes male.
SOX3 is known to be important for brain development but has not previously been shown to be capable of triggering the male pathway.
Thomas said changes in the human version of the same gene are present in some patients with disorders of sexual development.He and his team generated male mice with two X chromosomes by artificially activating the SOX3 gene in the
developing gonads.
"These XX male 'sex reversed' mice are completely male in appearance, reproductive structures and behaviour, but are sterile due to an inability to produce sperm," he said adding. "We have suspected for a long time that SOX3 is the evolutionary precursor gene for SRY. By showing that SOX3 can activate the male pathway in the same way as SRY, we now believe this to be true."
Studies shows that changes in the human SOX3 gene are present in some individuals who are XX male and could provide new insight into the genetic causes of disorders of sexual development, he said.
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